Article
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.
Human mutation - 1 May 2006
Ming Jeffrey E, Geiger Elizabeth, James Alison C, Ciprero Karen L, Nimmakayalu Manjunath, Zhang Yi, Huang Andrew, Vaddi Madhavi, Rappaport Eric, Zackai Elaine H, Shaikh Tamim H
Abstract excerpt
Chromosomal rearrangements such as microdeletions and interstitial duplications are the underlying cause of many human genetic disorders. These disorders can manifest in the form of multiple congenital anomalies (MCA), which are a significant cause of morbidity and mortality in children. The major limitations of cytogenetic tests currently used for the detection of such chromosomal rearrangements are low...
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